RGD:155795268 Rat Genome Database

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Variant: RGD:155795268 -  Homo sapiens

RGD ID: 155795268
ClinVar ID: CV1861208
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 680,958
GRCh38 11 680,958
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001367390.1:c.271+5G>A
NM_001293634.1:c.731-1142G>A
NM_021008.4:c.997+5G>A
NG_034156.2:g.31126G>A
More... 		12/13/2022 intron variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:DEAF1
Accession:XM_047426248
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426250
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426251
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426249
Location:INTRON

Gene Symbol:DEAF1
Accession:NM_001293634
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_011519842
Location:INTRON

Gene Symbol:DEAF1
Accession:NM_001367390
Location:INTRON

Gene Symbol:DEAF1
Accession:NM_021008
Location:INTRON

Gene Symbol:DEAF1
Accession:XR_007062437
Location:INTRON;NON-CODING

Gene Symbol:DEAF1
Accession:XR_007062436
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002469488 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DEAF1 CLINVAR
OMIM 602635 CLINVAR